Diffusion Tensor Imaging of Neurofibromatosis Bright Objects in Children with Neurofibromatosis Type 1

Ertan, Gülhan; Zan, Elçin; Yousem, David M.; Ceritoglu, Can; Tekes, Aylin; Poretti, Andrea; Huisman, Thierry A.G.M.

doi:10.15274/nrj-2014-10055

Cited by 14 publications

(15 citation statements)

References 31 publications

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“…Although we were able to demonstrate the technical superiority of rsDTI in delineating the optic nerves with adequate power, we were only able to find a significant decrease in mean, axial and radial diffusivity in NF1 patients with visual symptoms and chemotherapy, compared to NF1 patients without visual symptoms or chemotherapy. This contradicts the previous literature of increased mean and radial diffusivity associated with visual loss or pathology due to optic tumors [13,14,16,18]. Furthermore, this significant decrease in diffusivity was only found on the conventional ssDTI scans and not the rsDTI technique.…”

Section: Comparison Between Patient Groupscontrasting

confidence: 90%

Comparison of multi-shot and single shot echo-planar diffusion tensor techniques for the optic pathway in patients with neurofibromatosis type 1

Deardorff

Kralik

et al. 2019

Neuroradiology

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Introduction: Diffusion tensor imaging (DTI) may be helpful in assessing optic pathway integrity as a marker for treatment in neurofibromatosis type 1 (NF1) patients with optic gliomas (OG). However, susceptibility artifacts are common in typical single-shot echo planar imaging (ssDTI). A readoutsegmented multi-shot EPI technique (rsDTI) was utilized to minimize susceptibility distortions of the skull base and improve quantitative metrics. Methods: Healthy controls, children with NF1 without OG, and NF1 with OG ± visual symptoms were included. All subjects were scanned with both rsDTI and ssDTI sequences sequentially. Diffusion metrics and deterministic fiber tracking were calculated. Tract count, volume, and length were also compared by a two-factor mixed ANOVA. Results: 5 healthy controls, 7 NF1 children without OG, and 12 NF1 children with OG were imaged. 6 OG patients had visual symptoms. 4 subjects had no detectable optic pathway fibers on ssDTI due to susceptibility, for which rsDTI was able to delineate. Tract count (p<0.001), tract volume (p<0.001) and FA (P<0.001) were significantly higher for rsDTI versus ssDTI for all subjects. MD (p<0.001) and RD (p<0.001) were significantly lower for rsDTI vs ssDTI. Finally, MD, AD, and RD had a significantly lower difference in NF1 children with visual symptoms compared to NF1 children without visual symptoms only on ssDTI scans. Conclusion: DTI with readout-segmented multi-shot EPI technique can better visualize the optic pathway and allow more confident measurements of anisotropy in NF1 patients. This is shown by a significant increase in FA, tract count, and volume with rsDTI versus ssDTI.

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Section: Comparison Between Patient Groupscontrasting

confidence: 90%

Comparison of multi-shot and single shot echo-planar diffusion tensor techniques for the optic pathway in patients with neurofibromatosis type 1

Deardorff

Kralik

et al. 2019

Neuroradiology

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“…Brain stem and cerebellum are two common locations of UBOs (Ertan et al, 2014;Ferraz-Filho et al, 2012). FA values were lower in UBOs relative to spared white matter (Billiet et al, 2014;Ertan et al, 2014;Ferraz-Filho et al, 2012). Interestingly, in our sample these regions were not the one where UBOs appeared with the higher frequency.…”

Section: Discussioncontrasting

confidence: 58%

“…For the first time, we also found localized FA abnormalities in the brain stem and cerebellar white matter in absence of (or independent from) UBOs, with TD showing higher FA than NF1. Brain stem and cerebellum are two common locations of UBOs (Ertan et al, 2014;Ferraz-Filho et al, 2012). FA values were lower in UBOs relative to spared white matter (Billiet et al, 2014;Ertan et al, 2014;Ferraz-Filho et al, 2012).…”

Section: Discussionmentioning

confidence: 91%

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Discriminating between neurofibromatosis‐1 and typically developing children by means of multimodal MRI and multivariate analyses

Nemmi

Cignetti

Assaïante

et al. 2019

Human Brain Mapping

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Neurofibromatosis Type 1 leads to brain anomalies involving both gray and white matter. The extent and granularity of these anomalies, together with their possible impact on brain activity, is still unknown. In this multicentric cross‐sectional study we submitted a sample of 42 typically developing and 38 neurofibromatosis‐1 children to a multimodal MRI assessment including T1, diffusion weighted and resting state functional sequences. We used a pipeline involving several features selection steps coupled with multivariate statistical analysis (supporting vector machine) to discriminate between the two groups while having interpretable models. We used MRI indexes measuring macro (gray matter volume) and microstructural (fractional anisotropy, mean diffusivity) characteristics of the brain, as well as indexes of brain activity (fractional amplitude of low frequency fluctuations) and connectivity (local and global correlation) at rest. We found that structural indexes could discriminate between the two groups, with the mean diffusivity leading to performance as high as the combination of all structural indexes combined (accuracy = 0.86), while functional indexes had worse performances. The MRI signature of NF1 brain pathology is a combination of gray and white matter abnormalities, as measured with gray matter volume, fractional anisotropy, and mean diffusivity.

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“…A few studies have used diffusion tensor imaging (DTI) to characterize white matter microstructure and integrity of UBOs by measuring the degree and directionality of diffusivity. Higher apparent diffusion coefficient (ADC) and radialdiffusivity values and lower fractional anisotropy (FA) values have been found in UBOs compared to normal appearing white matter (Ertan et al, 2014;van Engelen et al, 2008). These findings can be explained by myelin deficiency and axonal damage.…”

Section: Cognitive and Psychiatric Characteristics Associated With Fxsmentioning

confidence: 99%

Imaging genetics in neurodevelopmental psychopathology

Klein

Donkelaar

Verhoef

et al. 2017

American J of Med Genetics Pt B

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Neurodevelopmental disorders are defined by highly heritable problems during development and brain growth. Attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), and intellectual disability (ID) are frequent neurodevelopmental disorders, with common comorbidity among them. Imaging genetics studies on the role of disease-linked genetic variants on brain structure and function have been performed to unravel the etiology of these disorders. Here, we reviewed imaging genetics literature on these disorders attempting to understand the mechanisms of individual disorders and their clinical overlap. For ADHD and ASD, we selected replicated candidate genes implicated through common genetic variants. For ID, which is mainly caused by rare variants, we included genes for relatively frequent forms of ID occurring comorbid with ADHD or ASD. We reviewed case-control studies and studies of risk variants in healthy individuals. Imaging genetics studies for ADHD were retrieved for SLC6A3/DAT1, DRD2, DRD4, NOS1, and SLC6A4/5HTT. For ASD, studies on CNTNAP2, MET, OXTR, and SLC6A4/5HTT were found. For ID, we reviewed the genes FMR1, TSC1 and TSC2, NF1, and MECP2. Alterations in brain volume, activity, and connectivity were observed. Several findings were consistent across studies, implicating, for example, SLC6A4/5HTT in brain activation and functional connectivity related to emotion regulation. However, many studies had small sample sizes, and hypothesis-based, brain region-specific studies were common. Results from available studies confirm that imaging genetics can provide insight into the link between genes, disease-related behavior, and the brain. However, the field is still in its early stages, and conclusions about shared mechanisms cannot yet be drawn.

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Diffusion Tensor Imaging of Neurofibromatosis Bright Objects in Children with Neurofibromatosis Type 1

Cited by 14 publications

References 31 publications

Comparison of multi-shot and single shot echo-planar diffusion tensor techniques for the optic pathway in patients with neurofibromatosis type 1

Comparison of multi-shot and single shot echo-planar diffusion tensor techniques for the optic pathway in patients with neurofibromatosis type 1

Discriminating between neurofibromatosis‐1 and typically developing children by means of multimodal MRI and multivariate analyses

Imaging genetics in neurodevelopmental psychopathology

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